A paper published online today in the high-profile journal, Nature, describes the results of using a bone marrow transplant to dramatically stop the development of symptoms in pre-symptomatic male and female mouse models of Rett Syndrome. The work was undertaken in the neuroimmunology laboratory of Jonathan Kipnis, Ph.D. and his team at the University of Virginia.
That a bone marrow transplant could arrest such a severe neurological syndrome such as Rett is quite unexpected and provides us with yet another strong example of how tractable this disorder appears to be – at least in the animal models. Experiments are now underway in the Kipnis lab to test whether reversal of advanced symptoms via bone marrow transplants and other modulation of the immune system is also possible.
This work was funded by the Rett Syndrome Research Trust and the Rett Syndrome Research Trust UK.
The clinical relevancy of this work makes this paper of obvious and significant interest. But the authors don't stop there. The paper describes data that could help us better understand how MeCP2 deficiency leads to symptoms. They introduce the concept of a powerful connection between the immune system and Rett Syndrome and open the door not only to bone marrow transplants as a treatment modality but potentially to other immune therapies as well.
To help you understand the key findings and implications we invite you to watch the videos below. Please watch the animation of the experiments first followed by the interview.
We would like to take this opportunity to thank Jeff Canavan of NewsAnimation for volunteering his time and effort to create the beautiful animation below. Jeff has a daughter with Rett Syndrome and founded, with his wife Sarah, the Kate Foundation for Rett Syndrome Research.
We thank Jeff Bemiss for donating his filmmaking expertise, substantial time, energy, equipment and editing resources to film the interview below. He comes to our cause through his friendship with the Canavan family.